Canonical Allele Identifier: CA10618048

Gene: NR3C2

Linked Data

• ClinVar Variation Id: 347704
• ClinVar RCV Id: RCV000332461
• dbSNP Id: rs61763141
• gnomAD v3: 4-148080312-C-G
• gnomAD v4: 4-148080312-C-G
• MyVariant Identifiers: chr4:g.149001463C>G (hg19) ; chr4:g.148080312C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148080312C>G , CM000666.2:g.148080312C>G	GRCh38
NC_000004.11:g.149001463C>G , CM000666.1:g.149001463C>G	GRCh37
NC_000004.10:g.149220913C>G	NCBI36
NG_013350.1:g.367210G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358102.8:c.*1032G>C MANE Select	ENSP00000350815.3:n.*1032G>C
ENST00000344721.8:c.*1032G>C	ENSP00000341390.4:n.*1032G>C
ENST00000358102.7:c.*1032G>C	ENSP00000350815.3:n.*1032G>C
ENST00000512865.5:c.*1032G>C	ENSP00000423510.1:n.*1032G>C
ENST00000625323.2:c.*1032G>C	ENSP00000486719.1:n.*1032G>C
NM_000901.4:c.*1032G>C	NP_000892.2:n.*1032G>C
NM_001166104.1:c.*1032G>C	NP_001159576.1:n.*1032G>C
XM_011531975.1:c.*1032G>C	XP_011530277.1:n.*1032G>C
XM_011531976.1:c.*1032G>C	XP_011530278.1:n.*1032G>C
XM_011531977.1:c.*1032G>C	XP_011530279.1:n.*1032G>C
NM_001354819.1:c.*1032G>C	NP_001341748.1:n.*1032G>C
NR_148974.1:n.3854G>C
NM_000901.5:c.*1032G>C MANE Select	NP_000892.2:n.*1032G>C
NM_001166104.2:c.*1032G>C	NP_001159576.1:n.*1032G>C
NR_148974.2:n.3748G>C